Myasthenic syndrome, congenital, 2A, slow-channel; CMS2A

Disease ID:1106
Name:Myasthenic syndrome, congenital, 2A, slow-channel; CMS2A
Associated with:1 target
Synonyms
Congenital myasthenic syndrome | Postsynaptic congenital myasthenic syndromes
Database Links
Disease Ontology: DOID:3635
OMIM: 616313
Orphanet: ORPHA590, ORPHA98913

Targets

nicotinic acetylcholine receptor β1 subunit
Role:  low nAChR expression
References:  2-3
Mutations:  nicotinic acetylcholine receptor β1 subunit is associated with 2 mutation. Click here for details

Ligands

No ligand related data available for Myasthenic syndrome, congenital, 2A, slow-channel; CMS2A

References

Show »

1. Engel AG, Ohno K, Milone M, Wang HL, Nakano S, Bouzat C, Pruitt 2nd JN, Hutchinson DO, Brengman JM, Bren N et al.. (1996) New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome. Hum. Mol. Genet., 5 (9): 1217-27. [PMID:8872460]

2. Engel AG, Ohno K, Sine SM. (2003) Sleuthing molecular targets for neurological diseases at the neuromuscular junction. Nat. Rev. Neurosci., 4 (5): 339-52. [PMID:12728262]

3. Engel AG, Shen XM, Selcen D, Sine SM. (2010) What have we learned from the congenital myasthenic syndromes. J. Mol. Neurosci., 40 (1-2): 143-53. [PMID:19688192]

4. Gomez CM, Maselli R, Gammack J, Lasalde J, Tamamizu S, Cornblath DR, Lehar M, McNamee M, Kuncl RW. (1996) A beta-subunit mutation in the acetylcholine receptor channel gate causes severe slow-channel syndrome. Ann. Neurol., 39 (6): 712-23. [PMID:8651643]